Valérie BIANCALANA

Publications

• 2018

  • A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

    • Macarena Cabrera-Serrano
    • Fabiola Mavillard
    • Valerie Biancalana
    • Eloy Rivas
    • Bharti Morar
    • Aurelio Hernandez-Lain
    • Montse Olive
    • Nuria Muelas
    • Eduardo Khan
    • Alejandra Carvajal
    • Pablo Quiroga
    • Jordi Diaz-Manera
    • Mark Davis
    • Rainiero Avila
    • Cristina Dominguez
    • Norma Romero
    • Juan Vilchez
    • David Comas
    • Nigel Laing
    • Jocelyn Laporte
    • ...

    Neurology ; Volume: 91 ; Page: 339-348

    HAL DOI

• 2017

  • Recessive myopalladin mutations cause congenital cap myopathy with unusual rods

    • E. Malfatti
    • X. Lornage
    • C. Chéraud
    • R. Schneider
    • V. Biancalana
    • J. Cuisset
    • M. Garibaldi
    • B. Eymard
    • M. Fardeau
    • A. Boland
    • J. Deleuze
    • J. Thompson
    • J. Böhm
    • N. Romero
    • J. Laporte

    Neuromuscular Disorders ; Volume: 27 ; Page: S185

    HAL DOI

  • Dominant Centronuclear Myopathy with Early Childhood Onset due to a Novel Mutation in BIN1

    • Carlyn Kouwenberg
    • Johann Bohm
    • Corrie Erasmus
    • Irene van Balken
    • Sandra Vos
    • Benno Kusters
    • Erik Kamsteeg
    • Valerie Biancalana
    • Catherine Koch
    • Nicolas Dondaine
    • Jocelyn Laporte
    • Nicol Voermans

    Journal of Neuromuscular Diseases ; Volume: 4 ; Page: 349-355

    HAL DOI

  • HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy

    • Yon Andoni Echaniz-Laguna
    • Xavière Lornage
    • Beatrice Lannes
    • Raphael Schneider
    • Guillaume Bierry
    • Nicolas Dondaine
    • Anne Boland
    • J Deleuze
    • Johann Bohm
    • Julie D. Thompson
    • Jocelyn Laporte
    • Valerie Biancalana

    Acta Neuropathologica ; Volume: 134 ; Page: 163-165

    HAL DOI

  • Nonlethal CHRNA1-Related Congenital Myasthenic Syndrome with a Homozygous Null Mutation

    • Osorio Abath Neto
    • Carlos Heise
    • Cristiane de Araújo Martins Moreno
    • Eduardo de Paula Estephan
    • Lilia Mesrob
    • Doris Lechner
    • Anne Boland
    • Jean-François Deleuze
    • Acary Souza Bulle Oliveira
    • Umbertina Reed
    • Valerie Biancalana
    • Jocelyn Laporte
    • Edmar Zanoteli

    Canadian Journal of Neurological Sciences ; Volume: 44 ; Page: 125-127

    HAL DOI

  • Recessive MYPN mutations cause cap myopathy with occasional nemaline rods

    • Xavière Lornage
    • Edoardo Malfatti
    • Raphael Schneider
    • Valerie Biancalana
    • Jean Cuisset
    • Matteo Garibaldi
    • Bruno Eymard
    • Michel Fardeau
    • Anne Boland
    • Jean Deleuze
    • Julie D. Thompson
    • Robert Carlier
    • Johann Bohm
    • Norma Romero
    • Jocelyn Laporte

    Ann Neurol ; Volume: 81 ; Page: 467-473

    HAL DOI

  • Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy

    • Vanessa Schartner
    • Norma Romero
    • Sandra Donkervoort
    • Susan Treves
    • Pinki Munot
    • Tyler Pierson
    • Ivana Dabaj
    • Edoardo Malfatti
    • Irina Zaharieva
    • Francesco Zorzato
    • Osario Abath Neto
    • Guy Brochier
    • Xavière Lornage
    • Bruno Eymard
    • Ana Taratuto
    • Johann Böhm
    • Hernan Gonorazky
    • Leigh Ramos-Platt
    • Lucy Feng
    • Rahul Phadke
    • ...

    Acta Neuropathologica ; Volume: 133 ; Page: 517-533

    HAL DOI

• 2016

  • A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels

    • O. Abath Neto
    • M. R. Silva
    • A. Martins Cde
    • S. Oliveira Ade
    • U. C. Reed
    • Valérie Biancalana
    • J. B. Pesquero
    • Jocelyn Laporte
    • E. Zanoteli

    Pediatric neurology ; Volume: 58 ; Page: 107-12

    HAL DOI

• 2015

  • Clinical massively parallel sequencing for the diagnosis of myopathies

    • Svetlana Gorokhova
    • Valerie Biancalana
    • Nicolas Lévy
    • Jocelyn Laporte
    • Marc Bartoli
    • Martin Krahn

    Revue Neurologique ; Volume: 171 ; Page: 558-571

    HAL DOI

  • EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders

    • Valérie Biancalana
    • Dieter Glaeser
    • Shirley Mcquaid
    • Peter Steinbach

    Eur J Hum Genet ; Volume: 23 ; Page: 417-425

    HAL DOI